NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NC_000017.11:g.(?_46031456)_(46082562_?)del
|
|
|
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)
|
rs1555575197
|
|
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs)
|
rs2046260021
|
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NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
|
NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer)
|
rs2147733170
|
|
NM_015443.4(KANSL1):c.1220C>G (p.Ser407Ter)
|
|
|
NM_015443.4(KANSL1):c.1269del (p.Glu424fs)
|
rs1555574888
|
|
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)
|
rs2046246646
|
|
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs)
|
rs2146947627
|
|
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter)
|
rs2041984041
|
|
NM_015443.4(KANSL1):c.1384C>T (p.Arg462Ter)
|
|
|
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys)
|
rs1018963624
|
|
NM_015443.4(KANSL1):c.1485_1488del (p.Leu496fs)
|
|
|
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer)
|
rs886039733
|
|
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs)
|
rs1057518182
|
|
NM_015443.4(KANSL1):c.1652+1G>A
|
rs281865470
|
|
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer)
|
rs2146659025
|
|
NM_015443.4(KANSL1):c.1725dup (p.Arg576fs)
|
rs2078389049
|
|
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter)
|
rs2146658002
|
|
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)
|
rs774841964
|
|
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
|
|
|
NM_015443.4(KANSL1):c.1802dup (p.Arg602fs)
|
|
|
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)
|
rs281865469
|
|
NM_015443.4(KANSL1):c.1849-26_1871del
|
rs2146486142
|
|
NM_015443.4(KANSL1):c.1849-4661_1895del
|
|
|
NM_015443.4(KANSL1):c.1944dup (p.His649fs)
|
|
|
NM_015443.4(KANSL1):c.2020+1G>A
|
|
|
NM_015443.4(KANSL1):c.2058del (p.Lys686fs)
|
rs1064793433
|
|
NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)
|
|
|
NM_015443.4(KANSL1):c.2105del (p.Lys702fs)
|
rs2146370110
|
|
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
|
|
|
NM_015443.4(KANSL1):c.2130del (p.Met711fs)
|
|
|
NM_015443.4(KANSL1):c.2132dup (p.Met711fs)
|
rs1555734136
|
|
NM_015443.4(KANSL1):c.2203+1G>A
|
rs796052595
|
|
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs)
|
rs1064796433
|
|
NM_015443.4(KANSL1):c.2342del (p.Pro781fs)
|
|
|
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
|
rs2077221203
|
|
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
|
|
|
NM_015443.4(KANSL1):c.2591del (p.Asn864fs)
|
rs2077088526
|
|
NM_015443.4(KANSL1):c.2664del (p.Ser889fs)
|
|
|
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs)
|
rs2077066093
|
|
NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)
|
|
|
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)
|
rs281865471
|
|
NM_015443.4(KANSL1):c.2821del (p.Gln941fs)
|
rs2146314756
|
|
NM_015443.4(KANSL1):c.2830_2837+13del
|
rs1064796289
|
|
NM_015443.4(KANSL1):c.2831dup (p.Ser945fs)
|
rs2146314563
|
|
NM_015443.4(KANSL1):c.2837+2T>C
|
rs975947508
|
|
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs)
|
rs1374665357
|
|
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs)
|
rs1568366050
|
|
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs)
|
rs1598441446
|
|
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
|
rs779686052
|
|
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)
|
rs2077025601
|
|
NM_015443.4(KANSL1):c.449del (p.Pro150fs)
|
rs1567764119
|
|
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs)
|
rs2147746137
|
|
NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs)
|
rs1064794038
|
|
NM_015443.4(KANSL1):c.540del (p.Lys180fs)
|
rs1597874008
|
|
NM_015443.4(KANSL1):c.572del (p.Gly191fs)
|
rs1555575816
|
|
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs)
|
rs1304078301
|
|
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
|
|
|
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
|
rs2147741933
|
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
rs142096969
|
|
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs)
|
rs2046278091
|
|
NM_015443.4(KANSL1):c.779del (p.Gly260fs)
|
rs748018297
|
|
NM_015443.4(KANSL1):c.788del (p.Leu263fs)
|
rs2147739739
|
|
NM_015443.4(KANSL1):c.808del (p.Leu270fs)
|
rs1555575489
|
|
NM_015443.4(KANSL1):c.878del (p.Asp293fs)
|
rs1555575405
|
|
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
|
rs1189248208
|
|
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)
|
rs281865468
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015443.4:c.1431+1_1432-1del
|
|
|